tbuckley/cabot-search huggingface dataset:
P-099: ANTI-SICKLING STUDY OF THE AQUEOUS EXTRACTS OF TINOSPORA CARDIFOLIA AND TERMINALIA BELLIRICA
Authors: PATRA S.
Journal: HemaSphere (2022)

Purpose: Introduction: - Sickle cell anaemia also known as drepanocytosis, is a genetic blood related disease in which red blood cells form an cresent (sickle) or abnormal shape. This genetic disease is due to a change in the beta globin chain of haemoglobin glutamic acid (a polar amino acid) is replaced by valine (a non – polar) amino acid. This genetical change reduces the binding of haemoglobin for oxygen. At the low oxygen level the mutant haemoglobin, known as sickle haemoglobin (Hbss). Medicinal plants have been used in Indian folk medicine in the remedy of sickle cell anaemia by inhibiting sickling. This work was therefore aimed at screening the antisickling study of the aqueous extract of stems of T. Cardifolia and fruits of T.bellirica used in the Indian herbal medicine. Objective:- The present study investigates the preliminary screening of secondary metabolites of aqueous extracts of T. Cardifolia(stems) and T.bellirica(fruits) and invitro antisickling test (sickling reversal test). Materials and methods: Standard methods of phytochemical analysis of T. Cardifolia(stems) and T.bellirica(fruits) and sickling reversal test (invitro antisickling test), stems of T. Cardifolia,fruits of T.bellirica and Hbss blood samples etc. Results: Screening of secondary metabolites (bioactive molecules) and sickling reversal test were carried out using standard methods. The phyto-chemical screening indicated the presence of secondary metabolites (bioactive molecules) viz - alkaloids,flavonoids,phenols, saponins, steroids and cardiac glycosides etc. The results of antisickling reversal test that T. cardifolia(stems) and T. bellirica (fruits) exhibited potential antisickling property. Conclusion: The percentage of sickle cells of untreated Hbss was statistically significant higher than treated Hbss. The percentage of sickle cells decreased on the addition of aqueous extract of T. cardifolia stems and T. bellirica fruits on induced Hbss blood, which indicates the reversal of of Hbss blood to normal biconcave shape due to the presence of bioactive molecules, which have sickling reversal (anti-sickling property) and anti haemolytic properties. The authors do not declare any conflict of interest
O-07: TRANSFUSION PRACTICE, POST-TRANSFUSION COMPLICATIONS AND RISK FACTORS IN SICKLE CELL DISEASE IN SENEGAL
Authors: SECK M., SENGHOR A., LOUM M., TOURÉ S., KEITA M., DIALLO A., BOUSSO E., FAYE B., SALL A., TOURÉ A., DIOP S.
Journal: HemaSphere (2022)

Purpose: Blood transfusion is an indispensable therapy in sickle cell disease, despite its multiple and often harmful complications. The objective of this study was to evaluate the complications of alloimmunization, infection and iron overload secondary to blood transfusion in sickle cell disease patients. Materials and methods: This was a six-month cross-sectional case-control study conducted in the Clinical Hematology Department of Dakar (Senegal) on 253 patients followed for major sickle cell disease (153 polytransfused and 100 non-transfused patients). Transfusion practice (modalities, indications), post-transfusion complications (alloimmunization, iron overload, infections) and risk factors (sociodemographic, clinical, biological) for the occurrence of these complications were evaluated. Results: The median age of the patients was 28.5 years (5-59). The sex ratio (M/F) was 0.86. Homozygous sickle cell disease was more frequent (95.3%). The median follow-up time was 9.1 years (2-26). Simple transfusion was performed in 142 patients, exchange transfusion in 29 patients; 22 patients were on a transfusion program. The indications for transfusion were dominated by acute anemia (57.06%) and prolonged CVO (14%). Red blood cell concentrates were administered in 143 patients (93.46%). The median number of units of blood received per patient was 10 units (2 - 48). The frequency of alloimmunization was 16% and the most frequent alloantibodies were anti-rhesus (34.19%) and anti-Kell (23.67%). The prevalence of hepatitis C in transfused subjects was 1.33% and 1% in non-transfused subjects (p=0.64). The prevalence of HBV was 2% in transfused patients and 3% in non-transfused patients (p=0.45). HIV antibodies were not found in either the transfused or the non-transfused patients. Twelve patients (7.84%) had post-transfusion iron overload (ferritin level >1000 ng/ml). The higher the transfusion, the higher the ferritin level (strong positive correlation, r = 0.8). The number of packed red blood cells transfused was the only risk factor for alloimmunization (p=0.03) and post-transfusion iron overload (p=0.023). The frequency of blood transfusion was not related to the transmission of infectious. Conclusion: The management of sickle cell disease often requires blood transfusion to correct anemia or prevent certain complications. Despite the progress made in transfusion safety, this therapy still remains a risk for the recipient. The authors do not declare any conflict of interest
O-05: INVESTIGATIONS OF KIDNEY DYSFUNCTION-RELATED GENE VARIANTS IN SICKLE CELL DISEASE PATIENTS IN CAMEROON (SUB-SAHARAN AFRICA)
Authors: NGO BITOUNGUI V., BELING A., KHUTHAL A., NEMBAWARE V., ESSOMBA R., NGO SACK., AWANDARE G., MAZANDU G., WONKAM A.
Journal: HemaSphere (2022)

Purpose: Renal dysfunctions are associated with increased morbidity and mortality in sickle cell disease (SCD). Early detection and subsequent management of SCD patients at risk for renal failure and dysfunctions are essential, however, predictors that can identify patients at risk of developing renal dysfunction are not fully understood. Materials and methods: In this study, we have investigated the association of 31 known kidney dysfunctions-related variants detected in African Americans from multi-ethnic genome wide studies (GWAS) meta-analysis, to kidney-dysfunctions in a group of 413 Cameroonian patients with SCD. Systems level bioinformatics analyses were performed, employing protein-protein interaction networks to further interrogate the putative associations. Results: Up to 61% of these patients had micro-albuminuria, 2.4% proteinuria, 71% glomerular hyperfiltration, and 5.9% had renal failure. Six variants are significantly associated with the two quantifiable phenotypes of kidney dysfunction (eGFR and crude-albuminuria): A1CF-rs10994860 (P = 0.02020), SYPL2-rs12136063 (P = 0.04208), and APOL1 (G1)-rs73885319 (P = 0.04610) are associated with eGFR; and WNT7A-rs6795744 (P = 0.03730), TMEM60-rs6465825 (P = 0.02340), and APOL1 (G2)-rs71785313 (P = 0.03803) observed to be protective against micro-albuminuria. We identified a protein-protein interaction sub-network containing three of these gene variants: APOL1, SYPL2, and WNT7A, connected to the Nuclear factor NF-kappa-B p105 subunit (NFKB1), revealed to be essential and might indirectly influence extreme phenotypes. Interestingly, clinical variables, including body mass index (BMI), systolic blood pressure, vaso-occlusive crisis (VOC), and haemoglobin (Hb), explain better the kidney phenotypic variations in this SCD population. Conclusion: This study highlights a strong contribution of haematological indices (Hb level), anthropometric variables (BMI, blood pressure), and clinical events (i.e., vasoocclusive crisis) to kidney dysfunctions in SCD, rather than known genetic factors. Only 6/31 characterised gene-variants are associated with kidney dysfunction phenotypes in SCD samples from Cameroon. The data reveal and emphasise the urgent need to extend GWAS studies in populations of African ancestries living in Africa, and particularly for kidney dysfunctions in SCD. The authors do not declare any conflict of interest
P-102: HEALTH LITERACY LEVEL ASSOCIATED WITH THALASSEMIA AMONG TUNISIAN’S YOUTH AND PROSPECTS FOR PRIMARY PREVENTION
Authors: MAAOUI F., MOUMNI I., ARBOIX-CALAS F., SAFRA I., MNIF S.
Journal: HemaSphere (2022)

Purpose: Thalassemia remains a public health problem in Tunisia. The difficulties in setting up a prevention program can be explained in part by negative social representations and the general public’s ignorance of this disease. This study examined the health literacy (HL) of Tunisian secondary school students regarding thalassemia as well as their emotional and behavioral attitudes towards this disease and preventive measures. Materials and methods: This is a quantitative study; a cross-sectional survey was conducted among Tunisian youths (n = 182; male 23,3 %, female 76,7 %). Data collection took place in two public secondary schools. Students aged 17 to 19 completed a paper and pencil questionnaire and described their knowledge level about Thalassemia, their affective and behavioral attitudes as well as their estimates of hereditary transmission risks and usefulness of prevention measures. Statistical software (SPSS, v.25.0) was used to analyze the data. Results: The results indicate low HL scores concerning Thalassemia. Lack of knowledge and confusion about the cause, symptoms, and diagnosis of Thalassemia is a common finding at all school levels surveyed. 48,9 % has not identified the hereditary nature of diseases and confuse it with dietary iron anemia 30,7%. Although 70,5% of respondents recognized severe anemia as a symptom however, 57,4% did not link jaundice to thalassemia, almost 30% said this disease causes rash, fever, dry cough and sore throat. The results show low levels in relation with assessment of the hereditary transmission risks on the one hand and the prenuptial screening usefulness on the other hand. 24,4% do not consider it necessary to inform their partner of their carrier status. 45% do not see the benefit of genetic counseling before marriage and prenatal diagnosis even if the family of one of the two partners has a history with disease. Conclusion: Primary prevention of thalassemia depends on a comprehensive strategy of promotion and health education for Tunisian’s youth. This survey reveals the difficulties of youths to consider the risks of hereditary transmission of thalassemia and to understand the importance of screening and genetic counseling. These results can be explained by the deficit of communication about disease severity and the lack of adequate educational content in Life Sciences programs. The authors do not declare any conflict of interest
P-101: REMEDIAL EFFECT OF GUDUCHI SATWA IN SICKLE RED BLOOD CELLS – AN AYURVEDIC APPROACH
Authors: RAJESH A., BHATT S., MEHER S., MAJHI D., PANDA S., KUNDU S., DASH B., PANDA P.
Journal: HemaSphere (2022)

Purpose: Sannipatika Panduroga, described in Classical Ayurveda Scriptures resembles the clinical features of Sickle cell Diseases (SCD), which results from substitution of a single amino acid, Glutamic Acid to Valine at 6th position on the β globin polypeptide chain, The resulting condition from homozygous (HbSS) and heterozygous (HbAS) states of the mutation are a cause of debilitating health conditions of millions across the globe including in India. One remedial approach as per Ayurveda for such condition, is application of processed stem parts of Tinospora cordifolia (called Guduchi in Ayurvedic term) in powdered starch form known as Guduchi Satwa. This study includes clinical application of Guduchi Satwa on SCD patients and the clinical improvements observed thereafter. Materials and methods: A clinical study was conducted on 30 SCD patients (15 patients each in Group-A and Group-B) registered at the OPD and IPD of Govt. Ayurvedic College and Hospital, Balangir, Odisha. The Subjective Parameters of study included Panduta (Pallor of the skin), Durvalata (Weakness), Sadana (Fatigue), Angamarda (Body ache), Jwara (Fever), Swasa (Dyspnoea), Aruchi (Anorexia), Gourava (Heaviness), Chhardi (Vomiting), Mala-Mutra and Netraswetata (pale colouration of urine, stool and eye), while Objective parameters as CBC, ESR Sickling test and Hb Electrophoresis were included for the clinical study. Group-A patients were treated with Herbo-Mineral Compound (500mg), which contains parts of silver, calcium, pearl paste, coral derivative among others; and Group-B patients with Guduchi Satwa (500 mg) twice daily in empty stomach with honey orally for 30 days respectively. The patients were assessed at 10 days interval up to 30 days in order to find the efficacy of both the trial drugs. Results: There were 65.15% and 40.85% of improvement in signs and symptoms and 25% & 17.65% of increase in the percentage level of Hb in the patients of Group-A and Group-B respectively. The statistically significant (P<0.05) result was revealed in both Group-A and Group-B but improvement was noticed more in Group-A. Conclusion: The overall study revealed that the application of Guduchi Satwa has Substantial and Noticeable improvement in the SCD specific parameters and over all health condition of the test subjects. Herbo-Mineral Compound i.e., Group-A showed better than Guduchi satwa i.e, Group-B. The composition of Herbo-Mineral Compound helped more to develop the body immunity as well as maintain the hematological parameters rather than single Guduchi satwa. No side effect was noticed during clinical trial in both groups. The compound is natural, chemical free and easily affordable compared to synthetic drugs, which holds a very promising future for prophylactic relief to SCD patients in the long-run. The authors do not declare any conflict of interest
P-066: BURDEN AND DISTRIBUTION OF SICKLE CELL ANEMIA IN TRIBAL AND NON-TRIBAL POPULATION OF STATE CHHATTISGARH, INDIA
Authors: LAD H., CHANDAK G., PATRA P.
Journal: HemaSphere (2022)

Purpose: Introduction and Aim: Sickle cell anemia, an inherited blood disorder has now become the concern of global health due to its wide presence in sub-Saharan Africa, parts of the Middle East and some areas of the Indian subcontinent. The tribal population of India, as per 2011 census, is 10.43 crore, constituting 8.6% of the total population. Despite of the highest population of indigenous people in India, there is a very little and scattered knowledge about the actual burden and frequency distribution pattern of the disease in this underprivileged group of the society. In state Chhattisgarh, where 30 % of the total population is contributed by indigenous people, there are limited studies with large scan. The objective of this study is to find out the genetic burden and distribution of the sickle gene in tribal and non tribal communities of State Chhattisgarh. Materials and methods: Methods: A large scale population based screening program was conducted during the year 2007 to 2017 under the State Sickle Cell Screening Program of Chhattisgarh, in which a total of 17,18,909 people in 11 districts along with the special camps in 6 districts was screened using sodium dithionite turbidity test (DTT) after taking informed consent. Identified 2,09,460 positive cases were subjected to confirmation by hemoglobin electrophoresis. The samples not apparently identified using electrophoresis and Sickle homozygous (SS) were further confirmed by HPLC. Results: Results: The data indicated the presence of the sickle gene in ~10 % while two sickle gene (homozygous; SS) in ~0.47 % of total screened population of Chhattisgarh. It was observed that the prevalence of the sickle gene in tribal group is highest in Gond, Halba and Kanwar tribes. Among non-tribals the prevalence highest occurrence in Teli followed by Ravat and Kurmi in OBC while in SC category, Satnami, Ganda, Mahar and Ghasiya communities showed the highest occurrence. Brahmin and Rajput communities showed the highest numbers among general social group. Conclusion: Conclusion: This was one of the largest population based study, which showed high prevalence of sickle gene in non tribal group as compared to tribal group in Chhattisgarh. The study has not only provided information on the disease burden and distribution pattern of the sickle gene among tribal and non-tribal communities of the State Chhattisgarh, but also contributed a lot in creating social awareness about the disease. Now, the people are voluntarily coming forward for their screening and adopting required management/ treatment strategies such as lifestyle management, pre/post marriage counseling and hydroxyurea therapy. The information can be used to link to their natural history and to develop better measures for management, control and effective eradication of the disease. The authors do not declare any conflict of interest
P-067: PROFILE OF INDIVIDUALS WITH SICKLE CELL DISEASE TESTED FOR COVID-19 BY POLYMERASE CHAIN REACTION IN A TERTIARY PEDIATRIC EMERGENCY HOSPITAL
Authors: CELA M., FLOR-PARK M.
Journal: HemaSphere (2022)

Purpose: Sickle cell disease (SCD) is a monosomic genetic disorder in which affected individuals might have a worse outcome in respiratory diseases such as covid-19 due to its induced hypoxemia sickling. Materials and methods: We described a group of SCD pediatric patients from a hematologic service that seeked medical care in an emergency department (ED) in the period of March 2020 to November 2021, in a tertiary hospital in Brazil that were tested for covid-19. We described clinical and laboratory characteristics: age, gender, SCD genotype, comorbidities, and ambulatorial treatments. We gathered information regarding clinical presentation and also laboratory findings for all participants, which included: hemoglobin, mean corpuscle volume (MCV), leucocytes, neutrophiles, lymphocytes, platelets count, total, direct and indirect bilirubin. We compared laboratory data from the last routine ambulatory visit and ED admission for all participants. We compared two groups of patients: those with positive polymerase chain reaction (PCR) for Sars-Cov-2 and the negative PCR group. We described treatments given to positive PCR individuals and their outcomes: hospitalization, intensive care unit (ICU) admission, death, venous thromboembolism, pediatric acute distress syndrome (PARDS), multisystem inflammatory syndrome in children (MIS-C), acute chest syndrome (ACS), vaso-occlusive crisis (VOC) and discharge before 24 hours of admission. Results: Twenty-nine individuals were included on our criteria and fifty-three admissions were analyzed. Five patients that have positive PCR had 40% of ICU admissions, but no death, venous thromboembolism, PARDS or MIS-C were registered. Median age for all patients at admission was 11 years old while positive patients had a median of 16 years old. The majority was male and had genotype SS. Laboratory findings at admission day at ED and a basal laboratory data did not show statistical significant differences, except for neutrophil count and direct bilirubin for all individuals and in the negative PCR group of participants. The main manifestations presented at ED were fever, followed by respiratory symptoms, hypoxia and VOC. During hospitalization antibiotics, oseltamivir, blood transfusion and enoxaparin were utilized as therapy and patients did not receive specific medications for covid-19 infection. Conclusion: We expected that Sars-Cov-2 infection would have a worse effect in SCD patients due to their comorbidities and their predisposition to worse outcomes in respiratory infections. That hypothesis though is not confirmed neither from this study nor other authors.Table 1. Characteristics of participants with SCD at ED who tested PCR positive and PCR negative for SARS-CoV-2Table 2. Comparison of laboratory values of participants tested PCR positive and negative for SARS-CoV-2 between last routine visit and admission in the ED The authors do not declare any conflict of interest
Patient-driven discovery of CCN1 to rescue cutaneous wound healing in diabetes via the intracellular EIF3A/CCN1/ATG7 signaling by nanoparticle-enabled delivery
Authors: Jing-Si Jiang, Jie Zang, Yi Ru, Ying Luo, Jian-Kun Song, Yue Luo, Xiao-Ya Fei, Zhan Zhang, Ying Zhang, Dan Yang, Mi Zhou, Qi-Long Chen, Yun Bai, Yong-Yong Li, Le Kuai, Bin Li
Journal: Biomaterials (2022)
Diabetic bone regeneration with nanoceria-tailored scaffolds by recapitulating cellular microenvironment: Activating integrin/TGF-β co-signaling of MSCs while relieving oxidative stress
Authors: Rajendra K. Singh, Dong Suk Yoon, Nandin Mandakhbayar, Chengji Li, Amal George Kurian, Na-Hyun Lee, Jung-Hwan Lee, Hae-Won Kim
Journal: Biomaterials (2022)
Crohn’s disease in endoscopic remission, obesity, and cases of high genetic risk demonstrate overlapping shifts in the colonic mucosal-luminal interface microbiome
Authors: Jonathan P. Jacobs, Maryam Goudarzi, Venu Lagishetty, Dalin Li, Tytus Mak, Maomeng Tong, Paul Ruegger, Talin Haritunians, Carol Landers, Philip Fleshner, Eric Vasiliauskas, Andrew Ippoliti, Gil Melmed, David Shih, Stephan Targan, James Borneman, Albert J. Fornace, Dermot P. B. McGovern, Jonathan Braun
Journal: Genome Medicine (2022)

Abstract Background Crohn’s disease (CD) patients demonstrate distinct intestinal microbial compositions and metabolic characteristics compared to unaffected controls. However, the impact of inflammation and underlying genetic risk on these microbial profiles and their relationship to disease phenotype are unclear. We used lavage sampling to characterize the colonic mucosal-luminal interface (MLI) microbiome of CD patients in endoscopic remission and unaffected controls relative to obesity, disease genetics, and phenotype. Methods Cecum and sigmoid colon were sampled from 110 non-CD controls undergoing screening colonoscopy who were stratified by body mass index and 88 CD patients in endoscopic remission (396 total samples). CD polygenic risk score (GRS) was calculated using 186 known CD variants. MLI pellets were analyzed by 16S ribosomal RNA gene sequencing, and supernatants by untargeted liquid chromatography-mass spectrometry. Results CD and obesity were each associated with decreased cecal and sigmoid MLI bacterial diversity and distinct bacterial composition compared to controls, including expansion of Escherichia/Shigella . Cecal and sigmoid dysbiosis indices for CD were significantly greater in obese controls than non-overweight controls. CD, but not obesity, was characterized by altered biogeographic relationship between the sigmoid and cecum. GRS was associated with select taxonomic shifts that overlapped with changes seen in CD compared to controls including Fusobacterium enrichment. Stricturing or penetrating Crohn’s disease behavior was characterized by lower MLI bacterial diversity and altered composition, including reduced Faecalibacterium , compared to uncomplicated CD. Taxonomic profiles including reduced Parasutterella were associated with clinical disease progression over a mean follow-up of 3.7 years. Random forest classifiers using MLI bacterial abundances could distinguish disease state (area under the curve (AUC) 0.93), stricturing or penetrating Crohn’s disease behavior (AUC 0.82), and future clinical disease progression (AUC 0.74). CD patients showed alterations in the MLI metabolome including increased cholate:deoxycholate ratio compared to controls. Conclusions Obesity, CD in endoscopic remission, and high CD genetic risk have overlapping colonic mucosal-luminal interface (MLI) microbiome features, suggesting a shared microbiome contribution to CD and obesity which may be influenced by genetic factors. Microbial profiling during endoscopic remission predicted Crohn’s disease behavior and progression, supporting that MLI sampling could offer unique insight into CD pathogenesis and provide novel prognostic biomarkers.